Incidental Mutation 'R5275:Atp5f1c'
ID 403861
Institutional Source Beutler Lab
Gene Symbol Atp5f1c
Ensembl Gene ENSMUSG00000025781
Gene Name ATP synthase F1 subunit gamma
Synonyms Atp5c1, 1700094F02Rik, F1 gamma
MMRRC Submission 042838-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R5275 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 10060841-10085321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10073544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 10 (R10G)
Ref Sequence ENSEMBL: ENSMUSP00000116368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026887] [ENSMUST00000114896] [ENSMUST00000114897] [ENSMUST00000130067] [ENSMUST00000139810] [ENSMUST00000145530] [ENSMUST00000153554]
AlphaFold Q91VR2
Predicted Effect probably benign
Transcript: ENSMUST00000026887
AA Change: R34G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781
AA Change: R34G

DomainStartEndE-ValueType
Pfam:ATP-synt 26 297 1.7e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114896
AA Change: R10G

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781
AA Change: R10G

DomainStartEndE-ValueType
Pfam:ATP-synt 2 273 1.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114897
AA Change: R34G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781
AA Change: R34G

DomainStartEndE-ValueType
Pfam:ATP-synt 27 297 6.8e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130067
AA Change: R10G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117182
Gene: ENSMUSG00000025781
AA Change: R10G

DomainStartEndE-ValueType
Pfam:ATP-synt 2 101 2.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139810
AA Change: R10G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781
AA Change: R10G

DomainStartEndE-ValueType
Pfam:ATP-synt 2 153 6.1e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145530
AA Change: R10G

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781
AA Change: R10G

DomainStartEndE-ValueType
Pfam:ATP-synt 2 187 1.2e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153554
AA Change: R10G

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781
AA Change: R10G

DomainStartEndE-ValueType
Pfam:ATP-synt 2 171 1.2e-43 PFAM
Meta Mutation Damage Score 0.9369 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Abcc1 C T 16: 14,284,050 (GRCm39) L1222F probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Apold1 G T 6: 134,960,763 (GRCm39) L72F probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Becn2 A G 1: 175,748,336 (GRCm39) H134R probably benign Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Chd6 A G 2: 160,811,283 (GRCm39) L1440P probably benign Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Cma1 A T 14: 56,179,157 (GRCm39) I233N probably damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Dst T C 1: 34,219,229 (GRCm39) S1890P probably benign Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm5117 T A 8: 32,229,595 (GRCm39) noncoding transcript Het
H2-T5 T C 17: 36,472,567 (GRCm39) probably null Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Opa1 C T 16: 29,430,397 (GRCm39) T451I probably damaging Het
Or2bd2 A T 7: 6,443,015 (GRCm39) T39S probably benign Het
Or4f15 T A 2: 111,814,174 (GRCm39) I82F probably damaging Het
Or4k1 T A 14: 50,377,953 (GRCm39) I48F probably benign Het
Pcdh12 T A 18: 38,417,154 (GRCm39) probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Ppan T A 9: 20,801,069 (GRCm39) Y115* probably null Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Ptpn20 A G 14: 33,353,149 (GRCm39) H296R probably benign Het
Rergl A G 6: 139,478,819 (GRCm39) probably null Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Scfd1 A T 12: 51,462,372 (GRCm39) H409L probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Slc24a5 C T 2: 124,927,781 (GRCm39) T360I probably benign Het
Snx6 T C 12: 54,830,807 (GRCm39) H51R probably damaging Het
Sorl1 A T 9: 41,942,198 (GRCm39) V1009D probably benign Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Tlk1 C T 2: 70,582,549 (GRCm39) probably benign Het
Tnc G A 4: 63,882,967 (GRCm39) Q1885* probably null Het
Vcl T C 14: 21,060,146 (GRCm39) V595A probably damaging Het
Vmn1r84 A T 7: 12,095,741 (GRCm39) N305K probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Other mutations in Atp5f1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Atp5f1c APN 2 10,073,477 (GRCm39) missense probably damaging 1.00
R3106:Atp5f1c UTSW 2 10,068,276 (GRCm39) missense probably benign 0.35
R4651:Atp5f1c UTSW 2 10,068,287 (GRCm39) missense probably damaging 1.00
R4670:Atp5f1c UTSW 2 10,064,428 (GRCm39) missense probably damaging 1.00
R5097:Atp5f1c UTSW 2 10,068,323 (GRCm39) missense probably benign 0.01
R5295:Atp5f1c UTSW 2 10,073,544 (GRCm39) missense possibly damaging 0.51
R6195:Atp5f1c UTSW 2 10,068,926 (GRCm39) missense possibly damaging 0.79
R6536:Atp5f1c UTSW 2 10,085,127 (GRCm39) unclassified probably benign
R9050:Atp5f1c UTSW 2 10,069,049 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATGTCGTCTCTGCCC -3'
(R):5'- CATGCCATGTCCTAAGTAGCAAGT -3'

Sequencing Primer
(F):5'- GCATACTTTGCAGCTGC -3'
(R):5'- AAGTCTTGCTTCTTGATGGCTAC -3'
Posted On 2016-07-22